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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2259636236
Gene:
Linked Data
dbSNP Id:
rs2036985167
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.40618856_40618857del , CM000679.2:g.40618856_40618857del
GRCh38
NC_000017.10:g.38775108_38775109del , CM000679.1:g.38775108_38775109del
GRCh37
NC_000017.9:g.36028634_36028635del
NCBI36
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